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Last Posted: Feb 05, 2023
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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.
Jean-Laurent Casanova et al. The Journal of clinical investigation 2023 1 (3)

Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were discovered in 2006, but not initially linked to any viral disease. These two lines of clinical investigation converged in 2020, with the discovery that inherited and/or autoimmune deficiencies of type I IFN immunity accounted for approximately 15%–20% of cases of critical COVID-19 pneumonia in unvaccinated individuals.

Appropriateness of Cardiovascular Disease Prevention Recommendations Obtained From a Popular Online Chat-Based Artificial Intelligence Model.
Ashish Sarraju et al. JAMA 2023 2

This exploratory study found that a popular online AI model provided largely appropriate responses to simple CVD prevention questions as evaluated by preventive cardiology clinicians. Findings suggest the potential of interactive AI to assist clinical workflows by augmenting patient education and patient-clinician communication around common CVD prevention queries.

Multimodal deep learning of fundus abnormalities and traditional risk factors for cardiovascular risk prediction
YC Lee et al, NPJ Digital Medicine, February 2, 2023

We develop an artificial intelligence model to identify CVD using multimodal data, including clinical risk factors and fundus photographs from the Samsung Medical Center (SMC) for development and internal validation and from the UK Biobank for external validation. The multimodal model achieves an area under the receiver operating characteristic curve (AUROC) of 0.781 (95% confidence interval [CI] 0.766–0.798) in the SMC and 0.872 (95% CI 0.857–0.886) in the UK Biobank.

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Jacqueline S Dron et al. JAMA cardiology 2023 2

What is the prevalence of protein-truncating variants (PTVs) in the apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes and their association with low-density lipoprotein (LDL) cholesterol levels and coronary heart disease (CHD)? In this genetic association study including 19?073 US participants and 190?464 UK participants, a PTV was identified in 0.4% of individuals. Estimated untreated LDL cholesterol concentrations were 32% to 37% lower in PTV carriers vs noncarriers, and PTVs were associated with a 49% reduction in CHD risk.


news Latest News and Publications
Antibody and T-cell responses to COVID-19 Vaccination in Common Variable Immunodeficiency and Specific Antibody Deficiency. External Web Site Icon
Rosenthal Jamie A, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023 0 0.
Factors Affecting Prolonged SARS-CoV-2 Infection and Development and Validation of Predictive Nomograms. External Web Site Icon
Guo Yifei, et al. Journal of medical virology 2023 0 0.
Post-COVID-19 interstitial lung disease: Insights from a machine learning radiographic model. External Web Site Icon
Karampitsakos Theodoros, et al. Frontiers in medicine 2023 0 0. 1083264
Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs. External Web Site Icon
Jean-Laurent Casanova et al. The Journal of clinical investigation 2023 1 (3)
Clinical and upper airway characteristics of 3715 patients with the Omicron variant of SARS-Cov-2 in Changchun, China. External Web Site Icon
Sha Jichao, et al. Journal of infection and public health 2023 0 0. (3) 422-429
Clinical Value of Platelets and Coagulation Parameters in Predicting the Severity of Delta Variant SARS-CoV-2. External Web Site Icon
Chen Yue-E, et al. Pathobiology : journal of immunopathology, molecular and cellular biology 2023 0 0. 1-10
Coronavirus RNA-dependent RNA polymerase interacts with the p50 regulatory subunit of host DNA polymerase delta and plays a synergistic role with RNA helicase in the induction of DNA damage response and cell cycle arrest in S phase. External Web Site Icon
Quan Li, et al. Emerging microbes & infections 2023 0 0. 2176008
Uncovering common pathobiological processes between COVID-19 and pulmonary arterial hypertension by integrating Omics data. External Web Site Icon
Wang Rui-Sheng, et al. Pulmonary circulation 2023 0 0. (1) e12191
Adherence to statin treatment in patients with familial hypercholesterolemia: A dynamic prediction model. External Web Site Icon
Arjen J Cupido et al. Journal of clinical lipidology 2023
Clinical genome editing to treat sickle cell disease-A brief update. External Web Site Icon
Parinaz Zarghamian et al. Frontiers in medicine 2023 91065377

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About HLBS-PopOmics

HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more

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Site Citation:
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1

Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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